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Cell Reports, ISSN 2211-1247, 01/2018, Volume 22, Issue 1, pp. 189 - 205
Journal Article
Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, pp. 11491 - 11491
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2017, Volume 26, Issue 23, pp. 4657 - 4667
Joubert syndrome (JBTS) is the archetypal ciliopathy caused by mutation of genes encoding ciliary proteins leading to multisystem phenotypes, including a... 
LOCALIZATION | ACTIVATION | CILIOPATHIES | PATHWAY | POLYCYSTIC KIDNEY-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | LENGTH | GENETICS & HEREDITY | MUTATIONS | CEP290 | CENTROSOMAL PROTEIN | FEATURES | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Polycystic Kidney Diseases - genetics | Retina - metabolism | Epithelial Cells - drug effects | Eye Abnormalities - drug therapy | Humans | Child, Preschool | Kidney Diseases, Cystic - drug therapy | Male | Abnormalities, Multiple - drug therapy | Cerebellum - abnormalities | Neoplasm Proteins - metabolism | Ciliopathies - drug therapy | Cyclin-Dependent Kinase 5 - genetics | Ciliopathies - genetics | Kidney Failure, Chronic - pathology | Antigens, Neoplasm - metabolism | Cilia - drug effects | Kidney Diseases, Cystic - genetics | Roscovitine | Purines - therapeutic use | Neoplasm Proteins - genetics | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Morpholines - therapeutic use | Antigens, Neoplasm - genetics | Cilia - pathology | Signal Transduction | Cerebellum - metabolism | Epithelial Cells - pathology | Eye Abnormalities - genetics | Cilia - metabolism | Cerebellum - pathology | Cilia - genetics | Cyclin-Dependent Kinase 5 - metabolism | Kidney Diseases, Cystic - pathology | Kidney Failure, Chronic - metabolism | Kidney Failure, Chronic - genetics | Kidney Diseases, Cystic - metabolism | Ciliopathies - metabolism | Eye Abnormalities - pathology | Pedigree | Retina - abnormalities | Mutation | Primary Cell Culture | Retina - pathology | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3231 - 3237
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance... 
rare disorders | Joubert syndrome | INPP5E | molar‐tooth sign | ciliopathy | molar-tooth sign | INPP5E MUTATIONS | AUTOPHAGOSOME-LYSOSOME FUSION | CILIOPATHIES | DISEASE | GENETICS & HEREDITY | DISORDERS | Abnormalities, Multiple - pathology | Eye Abnormalities - diagnostic imaging | Humans | Kidney Diseases, Cystic - diagnostic imaging | Cerebellum - abnormalities | Ciliopathies - diagnosis | Young Adult | Ciliopathies - genetics | Cerebellum - diagnostic imaging | Kidney Diseases, Cystic - genetics | Female | Abnormalities, Multiple - genetics | Phosphoric Monoester Hydrolases - genetics | Cilia - pathology | Abnormalities, Multiple - diagnostic imaging | Eye Abnormalities - genetics | Fibroblasts - pathology | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Homozygote | Magnetic Resonance Imaging | Retina - diagnostic imaging | Phenotype | Eye Abnormalities - pathology | Pedigree | Adolescent | Retina - abnormalities | Mutation | Retina - pathology | Ciliopathies - pathology | Medicine, Experimental | Medical research | Inositol | Phosphatases | RNA | Analysis | Cerebellum | Brain | Brain stem | Congenital defects | Teeth | Cognitive ability | Inositol polyphosphate | Retina | mRNA | Neurodevelopmental disorders | Sleep disorders | Apnea | Magnetic resonance imaging | Polydactyly | Fibroblasts | Retinal degeneration | Hindbrain | Ataxia | Dystrophy | Inositol-1,4,5-trisphosphate 5-phosphatase | Cilia | Index Medicus
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 12/2017, Volume 12, Issue 12, pp. 1974 - 1983
Background and objectives Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date,... 
Prevalence | Nephronophthisis related ciliopathy | Ciliopathies | Joubert-like syndromes | NEPHREG registry | Bardet-Biedl syndrome | Senior-Løken syndrome | Congenital oculomotor apraxia | Genetic heterogeneity | Kidney diseases, cystic | Homozygote | Kidney failure, chronic | Nephronophthisis (NPH) | Adolescent | Mainzer-Saldino syndrome | Registries | Mutation | COACH syndrome | Nephronophthisis, familial juvenile | Cross-Sectional studies | ADOLESCENT NEPHRONOPHTHISIS | JOUBERT-SYNDROME | FAMILIAL JUVENILE NEPHRONOPHTHISIS | SENIOR-LOKEN SYNDROME | CYSTIC KIDNEY-DISEASE | GENE | RENAL-FAILURE | UROLOGY & NEPHROLOGY | NPHP3 | MUTATIONS | DOMAIN PROTEIN | Polyuria - genetics | Humans | Kidney Diseases, Cystic - diagnostic imaging | Male | Ciliopathies - complications | Nervous System Diseases - genetics | Young Adult | Ciliopathies - genetics | Anemia - genetics | Kidney - diagnostic imaging | Ultrasonography | Kidney Diseases, Cystic - genetics | Kinesin - genetics | Female | Glomerular Filtration Rate - genetics | Neoplasm Proteins - genetics | Child | Calmodulin-Binding Proteins - genetics | Kidney Failure, Chronic - physiopathology | Antigens, Neoplasm - genetics | Cross-Sectional Studies | Membrane Proteins - genetics | Kidney Failure, Chronic - genetics | Proteins - genetics | Carrier Proteins - genetics | Phenotype | Adaptor Proteins, Signal Transducing - genetics | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Longitudinal Studies | Index Medicus | Genetic Heterogeneity | Kidney Diseases, Cystic | Kidney Failure, Chronic | Original
Journal Article
Postepy biochemii, ISSN 0032-5422, 12/2018, Volume 64, Issue 4, p. 338
Ciliopathies are a group of genetic diseases caused by defects in the function of cilia, that are cellular processes composed of a microtubule-based core.... 
Ciliopathies - genetics | Cilia - pathology | Ciliopathies - physiopathology | Humans | Mutation | Cilia - genetics | Ciliopathies - pathology
Journal Article
Nature Cell Biology, ISSN 1465-7392, 09/2017, Volume 19, Issue 10, pp. 1178 - 1188
Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the... 
GENE | MEMBRANE | MECKEL-SYNDROME | PERICENTRIOLAR MATERIAL | NEPHRONOPHTHISIS | MUTATIONS | RPGRIP1L | PRIMARY CILIUM | HUMAN HOMOLOG | BASAL BODY PROTEIN | CELL BIOLOGY | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Retina - metabolism | Humans | Male | Smoothened Receptor - metabolism | Cerebellum - abnormalities | Patched-1 Receptor - genetics | Smoothened Receptor - genetics | Young Adult | Ciliopathies - genetics | Patched-1 Receptor - metabolism | Stochastic Processes | Kidney Diseases, Cystic - genetics | Adult | Female | Membrane Proteins - metabolism | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Cell Line | Genetic Predisposition to Disease | Cilia - pathology | Signal Transduction | Membrane Proteins - genetics | Cerebellum - metabolism | Mice, Inbred C57BL | Eye Abnormalities - genetics | Cilia - metabolism | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Carrier Proteins - genetics | Kidney Diseases, Cystic - metabolism | Phenotype | Animals | Carrier Proteins - metabolism | Ciliopathies - metabolism | Eye Abnormalities - pathology | Image Processing, Computer-Assisted | Microscopy, Fluorescence - methods | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Retina - abnormalities | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Retina - pathology | Ciliopathies - pathology | Brain | Meckel's syndrome | Nephronophthisis | Architecture | Congenital defects | Transition zone | Neurodevelopmental disorders | Membrane proteins | Proteins | Signaling | Protein composition | Microscopy | Animal behavior | Stochasticity | Disruption | Localization | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2017, Volume 12, Issue 8, pp. e0183081 - e0183081
Ciliopathies are a group of rare disorders characterized by a high genetic and phenotypic variability, which complicates their molecular diagnosis. Hence the... 
GENE PRIORITIZATION | MESSENGER-RNA | MULTIDISCIPLINARY SCIENCES | BARDET-BIEDL-SYNDROME | INTERACTION NETWORKS | BBS GENES | CANDIDATE | MUTATIONS | IDENTIFICATION | RETINITIS-PIGMENTOSA | HUMAN INTERACTOME | Humans | Male | LIM Domain Proteins - metabolism | Ciliopathies - diagnosis | DNA-Binding Proteins - metabolism | Exome | Ciliopathies - genetics | Female | Membrane Proteins - metabolism | Microfilament Proteins - metabolism | Eye Proteins - genetics | Microfilament Proteins - genetics | Biomarkers - metabolism | Gene Expression | Cilia - pathology | Membrane Proteins - genetics | Genotype | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Cilia - metabolism | Nerve Tissue Proteins - metabolism | Proteins - genetics | Transcription Factors - metabolism | Phenotype | Proteins - metabolism | Eye Proteins - metabolism | LIM Domain Proteins - genetics | Consanguinity | High-Throughput Nucleotide Sequencing | Genome, Human | Ciliopathies - pathology | Usage | Genetic disorders | Gene mutations | Cilia and ciliary motion | Exome sequencing | Research | Diagnosis | Health aspects | Pediatrics | Filtration | Genes | Genomics | Disorders | Bardet-Biedl syndrome | Patients | Genetic screening | Gene sequencing | Studies | Filters | Hospitals | Diagnostic software | Strategy | Diagnostic systems | Mutation | Bioinformatics | Genetic counselling | Deoxyribonucleic acid--DNA | Methods | Cilia | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Journal Article